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1. Full Text Genetic Variation, Not Cell Type of Origin, Underlies the Majority of Identifiable Regulatory Differences in iPSCs
: e1005793
by Courtney K Burrows and Nicholas E Banovich and Bryan J Pavlovic and Kristen Patterson and Irene Gallego Romero and Jonathan K Pritchard and Yoav Gilad
PLoS Genetics, ISSN 1553-7390, 01/2016, Volume 12, Issue 1
  The advent of induced pluripotent stem cells (iPSCs) revolutionized human genetics by allowing us to generate pluripotent cells from easily accessible... 
Studies | Funding | Cloning | Stem cells | DNA methylation | Epigenetics | Fibroblasts | Genetic diversity | Gene expression | Deoxyribonucleic acid--DNA
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2. Full Text The Light Skin Allele of SLC24A5 in South Asians and Europeans Shares Identity by Descent
: e1003912
by Chandana Basu Mallick and Florin Mircea Iliescu and Märt Möls and Sarah Hill and Rakesh Tamang and Gyaneshwer Chaubey and Rie Goto and Simon Y W Ho and Irene Gallego Romero and Federica Crivellaro and Georgi Hudjashov and Niraj Rai and Mait Metspalu and C G Nicholas Mascie-Taylor and Ramasamy Pitchappan and Lalji Singh and Marta Mirazon-Lahr and Kumarasamy Thangaraj and Richard Villems and Toomas Kivisild
PLoS Genetics, ISSN 1553-7390, 11/2013, Volume 9, Issue 11
  Skin pigmentation is one of the most variable phenotypic traits in humans. A non-synonymous substitution (rs1426654) in the third exon of SLC24A5 accounts... 
Studies | Haplotypes | Genomics | Genes | Light | Genomes | Genetic diversity | Multiculturalism & pluralism | Evolution & development | Data processing
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3. Full Text RNA-seq: Impact of RNA degradation on transcript quantification
by Gallego Romero, Irene and Pai, Athma A and Tung, Jenny and Gilad, Yoav
BMC Biology, ISSN 1741-7007, 05/2014, Volume 12, Issue 1, pp. 42 - 42
Background: The use of low quality RNA samples in whole-genome gene expression profiling remains controversial. It is unclear if transcript degradation in low... 
degradation | RNA degradation | RNA | RNA-seq | RIN | HUMAN BRAIN | QUALITY-CONTROL | MICROCAPILLARY ELECTROPHORESIS TRACES | MICROARRAY ANALYSIS | MESSENGER-RNA | DECAY-RATES | BIOLOGY | GENE-EXPRESSION | NORMALIZATION | HUMAN POSTMORTEM TISSUES | DIFFERENTIAL EXPRESSION ANALYSIS | Sequence Analysis, RNA - methods | Genes | Humans | Molecular Sequence Annotation | RNA, Messenger - genetics | Statistics, Nonparametric | Gene Expression Profiling | RNA, Messenger - metabolism | Principal Component Analysis | RNA Stability - genetics | Messenger RNA | Research | Genetic transcription | Gene expression | Analysis | Studies | Index Medicus
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4. Full Text Ancient human genomes suggest three ancestral populations for present-day Europeans
by Lazaridis, Iosif and Lazaridis, Iosif and Patterson, Nick and Patterson, Nick and Mittnik, Alissa and Mittnik, Alissa and Renaud, Gabriel and Renaud, Gabriel and Mallick, Swapan and Mallick, Swapan and Kirsanow, Karola and Kirsanow, Karola and Sudmant, Peter H and Sudmant, Peter H and Schraiber, Joshua G and Schraiber, Joshua G and Castellano, Sergi and Castellano, Sergi and Lipson, Mark and Lipson, Mark and Berger, Bonnie and Berger, Bonnie and Economou, Christos and Economou, Christos and Bollongino, Ruth and Bollongino, Ruth and Fu, Qiaomei and Fu, Qiaomei and Bos, Kirsten I and Bos, Kirsten I and Nordenfelt, Susanne and Nordenfelt, Susanne and Li, Heng and Li, Heng and de Filippo, Cesare and De Filippo, Cesare and Prüfer, Kay and Prüfer, Kay and Sawyer, Susanna and Sawyer, Susanna and Posth, Cosimo and Posth, Cosimo and Haak, Wolfgang and Haak, Wolfgang and Hallgren, Fredrik and Hallgren, Fredrik and Fornander, Elin and Fornander, Elin and Rohland, Nadin and Rohland, Nadin and Delsate, Dominique and Delsate, Dominique and Francken, Michael and Francken, Michael and Guinet, Jean-Michel and Guinet, Jean-Michel and Wahl, Joachim and Wahl, Joachim and Ayodo, George and Ayodo, George and Babiker, Hamza A and Babiker, Hamza A and Bailliet, Graciela and Bailliet, Graciela and Balanovska, Elena and Balanovska, Elena and Balanovsky, Oleg and Balanovsky, Oleg and Barrantes, Ramiro and Barrantes, Ramiro and Bedoya, Gabriel and Bedoya, Gabriel and Ben-Ami, Haim and Ben-Ami, Haim and Bene, Judit and Bene, Judit and Berrada, Fouad and Berrada, Fouad and Bravi, Claudio M and Bravi, Claudio M and Brisighelli, Francesca and Brisighelli, Francesca and Busby, George B J and Busby, George B.J and Cali, Francesco and Cali, Francesco and Churnosov, Mikhail and Churnosov, Mikhail and Cole, David E C and Cole, David E.C and Corach, Daniel and Corach, Daniel and Damba, Larissa and Damba, Larissa and Van Driem, George and van Driem, George and Dryomov, Stanislav and Dryomov, Stanislav and Dugoujon, Jean-Michel and Dugoujon, Jean-Michel and ... and Humanistiska fakulteten and Stockholms universitet and Institutionen för arkeologi och antikens kultur and Arkeologiska forskningslaboratoriet
Nature, ISSN 0028-0836, 2014, Volume 513, Issue 7518, pp. 409 - 413
We sequenced the genomes of a similar to 7,000-year-old farmer from Germany and eight similar to 8,000-year-old hunter-gatherers from Luxembourg and Sweden. We... 
GENETIC DIVERSITY | AFRICA | CAVE | FARMERS | MULTIDISCIPLINARY SCIENCES | NEANDERTHAL | WIDE ASSOCIATION | DNA-SEQUENCING DATA | ADMIXTURE | HUNTER-GATHERERS | HISTORY | Europeans | Human genome | Genetic research | Genetic aspects | Research | Population genetics | Natural history | Population | Genomes | Genealogy | Index Medicus | Quantitative Biology - Populations and Evolution | Genètica de poblacions humanes | Genoma humà | Arkeologi | Humanities | Archaeology | Historia och arkeologi | History and Archaeology | Humaniora
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5. Full Text Pileflebitis por Aeromonas caviae secundaria a colecistitis aguda
by Vargas-Romero, Julio César and Fernández-Ruiz, Mario and Muñoz-Gallego, Irene and Sanza, Ángel
Enfermedades Infecciosas y Microbiología Clínica, ISSN 0213-005X, 2015, Volume 34, Issue 1, pp. 70 - 72
Infectious Disease
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6. Full Text Pylephlebitis due to Aeromonas caviae secondary to acute cholecystitis
by Vargas-Romero, Julio César and Fernández-Ruiz, Mario and Muñoz-Gallego, Irene and Sanza, Ángel
Enfermedades Infecciosas y Microbiologia Clinica, ISSN 0213-005X, 2016, Volume 34, Issue 1, pp. 70 - 72
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7. Full Text The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
by Mallick, Swapan and Li, Heng and Lipson, Mark and Mathieson, Iain and Gymrek, Melissa and Racimo, Fernando and Zhao, Mengyao and Chennagiri, Niru and Nordenfelt, Susanne and Tandon, Arti and Skoglund, Pontus and Lazaridis, Iosif and Sankararaman, Sriram and Fu, Qiaomei and Rohland, Nadin and Renaud, Gabriel and Erlich, Yaniv and Willems, Thomas and Gallo, Carla and Spence, Jeffrey P and Song, Yun S and Poletti, Giovanni and Balloux, Francois and Van Driem, George and De Knijff, Peter and Romero, Irene Gallego and Jha, Aashish R and Behar, Doron M and Bravi, Claudio M and Capelli, Cristian and Hervig, Tor and Moreno-Estrada, Andres and Posukh, Olga L and Balanovska, Elena and Balanovsky, Oleg and Karachanak-Yankova, Sena and Sahakyan, Hovhannes and Toncheva, Draga and Yepiskoposyan, Levon and Tyler-Smith, Chris and Xue, Yali and Abdullah, M. Syafiq and Ruiz-Linares, Andres and Beall, Cynthia M and Di Rienzo, Anna and Jeong, Choongwon and Starikovskaya, Elena B and Metspalu, Ene and Parik, Jüri and Villems, Richard and Henn, Brenna M and Hodoglugil, Ugur and Mahley, Robert and Sajantila, Antti and Stamatoyannopoulos, George and Wee, Joseph T. S and Khusainova, Rita and Khusnutdinova, Elza and Litvinov, Sergey and Ayodo, George and Comas, David and Hammer, Michael F and Kivisild, Toomas and Klitz, William and Winkler, Cheryl A and Labuda, Damian and Bamshad, Michael and Jorde, Lynn B and Tishkoff, Sarah A and Watkins, W. Scott and Metspalu, Mait and Dryomov, Stanislav and Sukernik, Rem and Singh, Lalji and Thangaraj, Kumarasamy and Paäbo, Svante and Kelso, Janet and Patterson, Nick and Reich, David
Nature, ISSN 0028-0836, 2016, Volume 538, Issue 7624, pp. 201 - 206
Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at... 
DISPERSAL | AFRICA | MUTATION-RATE | MODERN HUMANS | MULTIDISCIPLINARY SCIENCES | SEQUENCE | NEANDERTHAL | ADMIXTURE | INFERENCE | ANCESTRY | HISTORY | Genetics, Population | History, Ancient | Datasets as Topic | Species Specificity | Genomics | Humans | Mutation Rate | Neanderthals - genetics | Continental Population Groups - genetics | Phylogeny | Sequence Analysis, DNA | Genome, Human - genetics | Human Migration - history | New Guinea | Animals | Time Factors | Genetic Variation - genetics | African Continental Ancestry Group - genetics | Australia | Oceanic Ancestry Group - genetics | Genetic research | Genomes | Research | Biological diversity | Datasets | Demography | Population | Genetic diversity | Mutation | Hominids | Index Medicus | Genètica | Filogènia | Genoma humà | Genòmica
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8. Full Text A panel of induced pluripotent stem cells from chimpanzees: A resource for comparative functional genomics
by Romero, Irene Gallego and Pavlovic, Bryan J and Hernando-Herraez, Irene and Zhou, Xiang and Ward, Michelle C and Banovich, Nicholas E and Kagan, Courtney L and Burnett, Jonathan E and Huang, Constance H and Mitrano, Amy and Chavarria, Claudia I and Ben-Nun, Inbar Friedrich and Li, Yingchun and Sabatini, Karen and Leonardo, Trevor R and Parast, Mana and Marques-Bonet, Tomas and Laurent, Louise C and Loring, Jeanne F and Gilad, Yoav
eLife, 06/2015, Volume 4, Issue 2015, pp. 1 - 29
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9. Full Text An Aboriginal Australian Genome Reveals Separate Human Dispersals into Asia
by Morten Rasmussen and Xiaosen Guo and Yong Wang and Kirk E. Lohmueller and Simon Rasmussen and Anders Albrechtsen and Line Skotte and Stinus Lindgreen and Mait Metspalu and Thibaut Jombart and Toomas Kivisild and Weiwei Zhai and Anders Eriksson and Andrea Manica and Ludovic Orlando and Francisco M. De La Vega and Silvana Tridico and Ene Metspalu and Kasper Nielsen and María C. Ávila-Arcos and J. Víctor Moreno-Mayar and Craig Muller and Joe Dortch and M. Thomas P. Gilbert and Ole Lund and Agata Wesolowska and Monika Karmin and Lucy A. Weinert and Bo Wang and Jun Li and Shuaishuai Tai and Fei Xiao and Tsunehiko Hanihara and George van Driem and Aashish R. Jha and François-Xavier Ricaut and Peter de Knijff and Andrea B Migliano and Irene Gallego Romero and Karsten Kristiansen and David M. Lambert and Søren Brunak and Peter Forster and Bernd Brinkmann and Olaf Nehlich and Michael Bunce and Michael Richards and Ramneek Gupta and Carlos D. Bustamante and Anders Krogh and Robert A. Foley and Marta M. Lahr and Francois Balloux and Thomas Sicheritz-Pontén and Richard Villems and Rasmus Nielsen and Jun Wang and Eske Willerslev
Science, ISSN 0036-8075, 10/2011, Volume 334, Issue 6052, pp. 94 - 98
We present an Aboriginal Australian genomic sequence obtained from a 100-year-old lock of hair donated by an Aboriginal man from southern Western Australia in... 
Gene flow | Highlands | Aboriginal Australians | Genomics | REPORTS | Alleles | Admixtures | Genomes | Modeling | We they distinction | Asians | Y-CHROMOSOME | NEW-GUINEA | HUMAN-EVOLUTION | MULTIDISCIPLINARY SCIENCES | SEQUENCE | SETTLEMENT | DIVERSITY | MODEL | ESKIMO | HISTORY | Haplotypes | Western Australia | Humans | Asian Continental Ancestry Group - genetics | Male | Phylogeny | Hominidae - genetics | DNA, Mitochondrial - genetics | Ethnic Groups - genetics | Computer Simulation | Far East | Oceanic Ancestry Group - genetics | European Continental Ancestry Group - genetics | Gene Flow | Gene Frequency | Sequence Analysis, DNA | Linkage Disequilibrium | Animals | Genetics, Population - methods | Asia | Polymorphism, Single Nucleotide | Genome, Mitochondrial | African Continental Ancestry Group | Genome, Human | Emigration and Immigration | Physiological aspects | Australian aborigines | Genetic aspects | Research | Nucleotide sequencing | Population genetics | Human genetics | DNA sequencing | Mobility | Native peoples | Dispersal | Contamination | Index Medicus | Populations and Evolution | DNA, Mitochondrial | Humanities and Social Sciences | Life Sciences | Ethnic Groups | Biological anthropology | Genetics | Hominidae | Oceanic Ancestry Group | Genetics, Population | European Continental Ancestry Group | Asian Continental Ancestry Group
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10. Full Text Genetic Variation, Not Cell Type of Origin, Underlies the Majority of Identifiable Regulatory Differences in iPSCs
by Burrows, Courtney K and Banovich, Nicholas E and Pavlovic, Bryan J and Patterson, Kristen and Gallego Romero, Irene and Pritchard, Jonathan K and Gilad, Yoav
PLoS Genetics, ISSN 1553-7390, 2016, Volume 12, Issue 1, pp. e1005793 - e1005793
The advent of induced pluripotent stem cells (iPSCs) revolutionized human genetics by allowing us to generate pluripotent cells from easily accessible somatic... 
PLURIPOTENT STEM-CELLS | DERIVATION | DIFFERENTIATION | EXPRESSION | EPIGENETIC MEMORY | GENETICS & HEREDITY | Genetic Variation | Cell Differentiation - genetics | Cell Lineage | Epigenomics | Gene Expression Regulation, Developmental | Humans | DNA Methylation - genetics | Fibroblasts - cytology | Induced Pluripotent Stem Cells | Genetic aspects | Observations | Cell differentiation | Genetic variation | Stem cells | Index Medicus | Studies | Funding | Cloning | Deoxyribonucleic acid | DNA | DNA methylation | Epigenetics | Fibroblasts | Genetic diversity | Gene expression
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11. Full Text A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
by Daniel G. MacArthur and Suganthi Balasubramanian and Adam Frankish and Ni Huang and James Morris and Klaudia Walter and Luke Jostins and Lukas Habegger and Joseph K. Pickrell and Stephen B. Montgomery and Cornelis A. Albers and Zhengdong D. Zhang and Donald F. Conrad and Gerton Lunter and Hancheng Zheng and Qasim Ayub and Mark A. DePristo and Eric Banks and Min Hu and Robert E. Handsaker and Jeffrey A. Rosenfeld and Menachem Fromer and Mike Jin and Xinmeng Jasmine Mu and Ekta Khurana and Kai Ye and Mike Kay and Gary Ian Saunders and Marie-Marthe Suner and Toby Hunt and H. A. Barnes and Clara Amid and Denise R. Carvalho-Silva and Alexandra H. Bignell and Catherine Snow and Bryndis Yngvadottir and Suzannah Bumpstead and David N. Cooper and Yali Xue and Irene Gallego Romero and Jun Wang and Yingrui Li and Richard A. Gibbs and Steven A. McCarroll and Emmanouil T. Dermitzakis and Jonathan K. Pritchard and Jeffrey C. Barrett and Jennifer Harrow and Matthew E. Hurles and Mark B. Gerstein and Chris Tyler-Smith and 1000 Genomes Project Consortium
Science, ISSN 0036-8075, 2/2012, Volume 335, Issue 6070, pp. 823 - 828
Genome-sequencing studies indicate that all humans carry many genetic variants predicted to cause loss of function (LoF) of protein-coding genes, suggesting... 
Disease models | Muscular diseases | RESEARCH ARTICLES | Genes | Alleles | Medical genetics | Nonsense | Genomes | Genetic diseases | Sequencing | Human genetics | POPULATION | NUMBER | POSITIVE SELECTION | FORM | ANNOTATION | MULTIDISCIPLINARY SCIENCES | MECHANISMS | ASSOCIATION | Genetic Variation | Proteins - genetics | Gene Expression | Phenotype | Disease - genetics | Gene Frequency | Humans | Selection, Genetic | Polymorphism, Single Nucleotide | Genome, Human | Genetic variation | Genomics | Research | Evolution | Index Medicus
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12. Full Text Ethiopian Genetic Diversity Reveals Linguistic Stratification and Complex Influences on the Ethiopian Gene Pool
by Pagani, Luca and Kivisild, Toomas and Tarekegn, Ayele and Ekong, Rosemary and Plaster, Chris and Gallego Romero, Irene and Ayub, Qasim and Mehdi, S. Qasim and Thomas, Mark G and Luiselli, Donata and Bekele, Endashaw and Bradman, Neil and Balding, David J and Tyler-Smith, Chris
The American Journal of Human Genetics, ISSN 0002-9297, 07/2012, Volume 91, Issue 1, pp. 83 - 96
Humans and their ancestors have traversed the Ethiopian landscape for millions of years, and present-day Ethiopians show great cultural, linguistic, and... 
MIDDLE AWASH | AFRICA | HOMO-SAPIENS | HOMINIDS | Y-CHROMOSOME | UNRELATED INDIVIDUALS | POSITIVE SELECTION | MODERN HUMANS | GENETICS & HEREDITY | ASSOCIATION | HUMAN-POPULATIONS | Genetic Variation | Haplotypes | Language | Gene Pool | Humans | Phylogeography | Genotype | African Continental Ancestry Group - genetics | Phylogeny | Ethiopia | Emigration and Immigration | Linkage Disequilibrium | Genetic aspects | Research | Demographic aspects | Human population genetics | Ethiopians | Evolutionary biology | Genes | Analysis | Genomics | Linguistics | Pigments | Genotype & phenotype | Genetic diversity | Comparative analysis | Index Medicus
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